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Results 1 - 10 of 12 for Oculocutaneous albinism type 1
Did you mean "oculo cutaneous" albinism type 1?
  1. TYR gene 
    ... TYR gene have been identified in people with oculocutaneous albinism type 1. These mutations disrupt the normal production of melanin, ... 2003 Sep 10. Citation on PubMed Lewis RA. Oculocutaneous Albinism Type 1 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2000 Jan ...
    https://medlineplus.gov/genetics/gene/tyr - Genetics
  2. Oculocutaneous albinism 
    ... Genetic Testing Registry: Oculocutaneous albinism Genetic Testing Registry: Oculocutaneous albinism type 1 Genetic Testing Registry: Oculocutaneous albinism type 1B Genetic ...
    https://medlineplus.gov/genetics/condition/oculocutaneous-albinism - Genetics
  3. HPS1 gene 
    ... E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 ...
    https://medlineplus.gov/genetics/gene/hps1 - Genetics
  4. HPS3 gene 
    ... E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 ...
    https://medlineplus.gov/genetics/gene/hps3 - Genetics
  5. Hermansky-Pudlak syndrome 
    ... E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 ...
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome - Genetics
  6. SLC45A2 gene 
    ... and problems with vision that are characteristic of oculocutaneous albinism type 4. More About This Health Condition MedlinePlus Genetics provides information about Melanoma More About This Health Condition AIM-1 AIM1 MATP melanoma antigen AIM1 membrane associated transporter ...
    https://medlineplus.gov/genetics/gene/slc45a2 - Genetics
  7. TYRP1 gene 
    ... on PubMed Sarangarajan R, Boissy RE. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001 Dec;14(6):437-44. doi: 10.1034/j.1600-0749.2001.140603.x. Citation on PubMed
    https://medlineplus.gov/genetics/gene/tyrp1 - Genetics
  8. OCA2 gene 
    ... syndrome: deletion versus UPD. Genomics. 2005 Jan;85(1):85-91. doi: 10.1016/j.ygeno.2004.10.010. Citation on PubMed Brilliant MH. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. ...
    https://medlineplus.gov/genetics/gene/oca2 - Genetics
  9. MC1R gene 
    ... genes have many of the usual features of oculocutaneous albinism type 2; however, they ... MC1-R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) Melanocortin-1 ...
    https://medlineplus.gov/genetics/gene/mc1r - Genetics
  10. Albinism 
    ... The most severe form of albinism is called oculocutaneous ... albinism type 1 (OA1), affects only the eyes. The person's skin ...
    https://medlineplus.gov/ency/article/001479.htm - Medical Encyclopedia
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